Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis

American Journal of Hematology

Volumn 79, Issue 4, 2005, Pages 309-313

  Bien Willner, Gabriel A ^a   Stankiewicz, Paweł ^a   Lupski, James R ^a,b   Northup, Jill K ^c   Velagaleti, Gopalrao V N ^c,d  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c University of Texas Medical Branch School of Medicine   (United States)

^d UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

AGED; ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; CYTOGENETICS; DIAGNOSTIC TEST; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; LOW COPY REPEAT; MALE; MYELOID METAPLASIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGNOSIS; SCREENING TEST;

AGED; AGED, 80 AND OVER; BONE MARROW; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERPHASE; ISOCHROMOSOMES; MALE; MYELOFIBROSIS; RECOMBINATION, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 23244435580     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.20366     Document Type: Article

References (24)

1. Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998;14:417-422.
2. Lupski JR. Genomic disorders: recombination-based disease resulting from genome architecture. Am J Hum Genet 2003;72:246-252.
3. Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002a;18:74-82.
4. Stankiewicz P, Lupski JR. Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 2002b;12:312-319.
5. Stankiewicz P, Inoue K, Bi W, et al. Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits. Cold Spring Harb Symp Quant Biol 2003a;68:445-454.
6. Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004;13:57R-64R.
7. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 2001;11: 1005-1017.
8. Stankiewicz P, Shaw CJ, Dapper JD, et al. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet 2003b;72:1101-1116.
9. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 1992;2:292-300.
10. Chance PF, Abbas N, Lensch MW, et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994;3: 223-228.
11. Cheii K-S, Manian P, Koeuth T. et al. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 1997;17: 154-163.
12. Potocki L, Chen K-S, Park S-S, et al. Molecular mechanism for duplication 17pl 1.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-87.
13. Saglio G, Storlazzi CT, Giugliano E, et al. A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation. Proc Natl Acad Sci USA 2002; 99:9882-9887.
14. Barbouti A, Stankiewicz P, Nusbaum C, et al. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic. low-copy repeats. Am J Hum Genet 2004;74:1-10.
15. Mertens F, Johansson B, Mitelman F. Isochromosomes in neoplasia. Genes Chromosomes Cancer 1994;10:221-230.
16. Biegel JA, Rorke LB, Packer RJ, et al. Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system. Genes Chromosomes Cancer 1989;1:139-147.
17. 1-negative leukemia: a clinical, cytogenetic, and molecular study. Blood 1990;75:1679-1683.
18. Alimena G, De Cuia MR, Diverio D, Gastaldi R, Nanni M. The karyotype of blastic crisis. Cancer Genet Cytogenet 1987;26:39-50.
19. Fioretos T, Strömbeck B, Sandberg T. et al. Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations. Blood 1999; 94:225-232.
20. Scheurlen WG, Seranski P, Mincheva A. et al. High-resolution deletion mapping of chromosome arm 17p in childhood primitive neuroectodermal tumors reveals a common chromosomal disruption within the Smith-Magenis region, an unstable region in chromosome band 17p11.2. Genes Chromosomes Cancer 1997; 18:50-58.
21. Scheurlen WG, Schwabe GC, Seranski P, et al. Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q). Genes Chromosomes Cancer 1999;25: 230-240.
22. Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 1997;69:325-331.
23. Groupe Français de Cytogénétique Hématologique. Cytogenetics of acutely transformed chronic myeloproliferative syndromes without a Philadelphia chromosome. Cancer Genet Cytogenet 1988;32:157-168.
24. McClure RF, Dewald GW, Hoyer JD, Hanson CA. Isolated isochromosome 17q: a distinct type of mixed myeloproliferative disorder/myelodysplastic syndrome with an aggressive clinical course. Br J Haematol 1999:106;445-454.